ReviewNeurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics2018
Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.
Review in Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- Protein Phosphorylation Alterations in Myotonic Dystrophy Type 1: A Systematic Review.International journal of molecular sciences · 2023Pooled it
- Article
- MyomiRs Expression in Limb Girdle Muscular Dystrophy.IUBMB life · 2025Review
- Use of HSALab animal · 2025Article
- Delivery of genetic medicines for muscular dystrophies.Cell reports. Medicine · 2025Review
- Disturbance of the human gut microbiota in patients with Myotonic Dystrophy type 1.Computational and structural biotechnology journal · 2024Article
- Article
- Common Characteristics Between Frailty and Myotonic Dystrophy Type 1: A Narrative Review.Aging and disease · 2024Review
- Associations between lower extremity muscle fat fraction and motor performance in myotonic dystrophy type 2: A pilot study.Muscle & nerve · 2023Article
- Milestones of progression in myotonic dystrophy type 1 and type 2.Muscle & nerve · 2022Article
- Healthcare resource utilization, total costs, and comorbidities among patients with myotonic dystrophy using U.S. insurance claims data from 2012 to 2019.Orphanet journal of rare diseases · 2022Article
- Review
- MR imaging of inherited myopathies: a review and proposal of imaging algorithms.European radiology · 2021Review
- hnRNP L is essential for myogenic differentiation and modulates myotonic dystrophy pathologies.Muscle & nerve · 2021Article
- CTG-Repeat Detection in Primary Human Myoblasts of Myotonic Dystrophy Type 1.Frontiers in neuroscience · 2021Article
- Factors Influencing the Severity and Progression of Respiratory Muscle Dysfunction in Myotonic Dystrophy Type 1.Frontiers in neurology · 2021Article
- MyomiRNAs and myostatin as physical rehabilitation biomarkers for myotonic dystrophy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2020Article
- Exploring the Potential of Small Molecule-Based Therapeutic Approaches for Targeting Trinucleotide Repeat Disorders.Molecular neurobiology · 2020Review
- A Promising Future for Stem-Cell-Based Therapies in Muscular Dystrophies-In Vitro and In Vivo Treatments to Boost Cellular Engraftment.International journal of molecular sciences · 2019Review
- Association of Sjögren's syndrome with myotonic dystrophy type 1.BMJ case reports · 2019Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms. The classically described adult-onset form is the most common. In contrast, myotonic dystrophy type 2 is adult-onset or late-onset, has proximal predominant muscle weakness, and generally has less severe multisystem involvement. In both forms of myotonic dystrophy, the best characterized disease mechanism is a RNA toxic gain-of-function during which RNA repeats form nuclear foci resulting in sequestration of RNA-binding proteins and, therefore, dysregulated splicing of premessenger RNA. There are currently no disease-modifying therapies, but clinical surveillance, preventative measures, and supportive treatments are used to reduce the impact of muscular impairment and other systemic involvement including cataracts, cardiac conduction abnormalities, fatigue, central nervous system dysfunction, respiratory weakness, dysphagia, and endocrine dysfunction. Exciting preclinical progress has been made in identifying a number of potential strategies including genome editing, small molecule therapeutics, and antisense oligonucleotide-based therapies to target the pathogenesis of type 1 and type 2 myotonic dystrophies at the DNA, RNA, or downstream target level.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.